disease genetics

Category archives for disease genetics

I wrote a few days ago about a debate in the New England Journal of Medicine over the value of data emerging from recent genome-wide studies of the role of genetic variation in common human diseases and other traits. David Goldstein argued that genome-wide association studies (GWAS) have generated disappointing results, and should be scaled…

This casual aside on a recent post on personal genomics company 23andMe’s corporate blog caught my eye: Mutations in several other genes have also been associated with Parkinson’s disease, but these are extremely rare. Many have been found only in one or two families. While these mutations are so rare that they are not covered…

A couple of weeks ago I pointed to an article by bioethicist Jacob Appel arguing that genetic screening for severe disease mutations should be mandatory for parents undergoing IVF, and that not doing so is tantamount to child abuse. Today the same theme is taken up by New Scientist biology editor Michael Le Page, but…

I just noticed that GeneTests, a voluntary listing of US and international laboratories offering in-house genetic tests, has released an updated version of their graph of commercially available tests: You can see immediately that as the number of tested diseases continues to climb, the number of testing laboratories has plateaued – at least partly the…

Nejentsev et al. (2009). Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes. Science DOI: 10.1126/science.1167728 The first item on my long list of predictions for 2009 was that this will be the year of rare variants for common disease – the year that we really start tracking down…

Jones et al. (2009). Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene. Science DOI: 10.1126/science.1171202 A paper published online today in Science illustrates both the potential and the challenges of using large-scale DNA sequencing to identify rare genetic variants underlying disease risk. Traditionally, geneticists have pinned down such variants using large family studies.…

Steve Murphy is up in arms about a recent email from 23andMe to its customers advertising the use of genetic variants on its V2 chip to predict individual risk of statin-induced myopathy and breast cancer. Of course, Steve does have a strong financial interest in 23andMe staying as far away as possible from the area…

Following the dramatic appearance of the field of personal genomics just over a year ago the major players in the field have worked hard to distinguish themselves from their competition: 23andMe has emphasised the intellectual joy of learning about genetics, and also attempted to actively engage its customers in the company’s research projects; deCODEme has…

An article in the latest issue of the New England Journal of Medicine takes a look at the sharing of genetic risk factors between type 1 diabetes and celiac disease, two reasonably common auto-immune disorders (affecting ~0.4 and ~0.1%, respectively, of individuals of northern European origin). Celiac disease is more common in type 1 diabetes…